Literature DB >> 30363484

XPR1 Mutations: Another Cause of Primary Familial Brain Calcification.

Roberto Erro1,2, Susanne A Schneider3.   

Abstract

Entities:  

Keywords:  Fahr disease; SLC20A2; XPR1; basal ganglia calcification; primary familial brain calcification

Year:  2015        PMID： 30363484      PMCID： PMC6178647          DOI： 10.1002/mdc3.12240

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  9 in total

Review 1.  Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization.

Authors:  Vera Tadic; Ana Westenberger; Aloysius Domingo; Daniel Alvarez-Fischer; Christine Klein; Meike Kasten
Journal:  JAMA Neurol       Date:  2015-04       Impact factor: 18.302

2.  Inorganic phosphate export by the retrovirus receptor XPR1 in metazoans.

Authors:  Donatella Giovannini; Jawida Touhami; Pierre Charnet; Marc Sitbon; Jean-Luc Battini
Journal:  Cell Rep       Date:  2013-06-20       Impact factor: 9.423

3.  A human cell-surface receptor for xenotropic and polytropic murine leukemia viruses: possible role in G protein-coupled signal transduction.

Authors:  J L Battini; J E Rasko; A D Miller
Journal:  Proc Natl Acad Sci U S A       Date:  1999-02-16       Impact factor: 11.205

4.  Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.

Authors:  Gaël Nicolas; Cyril Pottier; David Maltête; Sophie Coutant; Anne Rovelet-Lecrux; Solenn Legallic; Stéphane Rousseau; Yvan Vaschalde; Lucie Guyant-Maréchal; Jérôme Augustin; Olivier Martinaud; Luc Defebvre; Pierre Krystkowiak; Jérémie Pariente; Michel Clanet; Pierre Labauge; Xavier Ayrignac; Romain Lefaucheur; Isabelle Le Ber; Thierry Frébourg; Didier Hannequin; Dominique Campion
Journal:  Neurology       Date:  2012-12-19       Impact factor: 9.910

5.  Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

Authors:  Sandy Chan Hsu; Renee L Sears; Roberta R Lemos; Beatriz Quintáns; Alden Huang; Elizabeth Spiteri; Lisette Nevarez; Catherine Mamah; Mayana Zatz; Kerrie D Pierce; Janice M Fullerton; John C Adair; Jon E Berner; Matthew Bower; Henry Brodaty; Olga Carmona; Valerija Dobricić; Brent L Fogel; Daniel García-Estevez; Jill Goldman; John L Goudreau; Suellen Hopfer; Milena Janković; Serge Jaumà; Joanna C Jen; Suppachok Kirdlarp; Joerg Klepper; Vladimir Kostić; Anthony E Lang; Agnès Linglart; Melissa K Maisenbacher; Bala V Manyam; Pietro Mazzoni; Zofia Miedzybrodzka; Witoon Mitarnun; Philip B Mitchell; Jennifer Mueller; Ivana Novaković; Martin Paucar; Henry Paulson; Sheila A Simpson; Per Svenningsson; Paul Tuite; Jerrold Vitek; Suppachok Wetchaphanphesat; Charles Williams; Michele Yang; Peter R Schofield; João R M de Oliveira; María-Jesús Sobrido; Daniel H Geschwind; Giovanni Coppola
Journal:  Neurogenetics       Date:  2013-01-20       Impact factor: 2.660

6.  Stimulation of Na-dependent phosphate transport by platelet-derived growth factor in rat aortic smooth muscle cells.

Authors:  Ayako Kakita; Atsushi Suzuki; Keiko Nishiwaki; Yasunaga Ono; Motoko Kotake; Yoh Ariyoshi; Yoshitaka Miura; Mitsuyasu Ltoh; Yutaka Oiso
Journal:  Atherosclerosis       Date:  2004-05       Impact factor: 5.162

7.  2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family.

Authors:  Claudia Béu Volpato; Alessandro De Grandi; Ebba Buffone; Maurizio Facheris; Uwe Gebert; Günther Schifferle; Rudolf Schönhuber; Andrew Hicks; Peter P Pramstaller
Journal:  J Mol Neurosci       Date:  2009-11       Impact factor: 3.444

8.  Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

Authors:  Annika Keller; Ana Westenberger; Maria J Sobrido; Maria García-Murias; Aloysius Domingo; Renee L Sears; Roberta R Lemos; Andres Ordoñez-Ugalde; Gael Nicolas; José E Gomes da Cunha; Elisabeth J Rushing; Michael Hugelshofer; Moritz C Wurnig; Andres Kaech; Regina Reimann; Katja Lohmann; Valerija Dobričić; Angel Carracedo; Igor Petrović; Janis M Miyasaki; Irina Abakumova; Maarja Andaloussi Mäe; Elisabeth Raschperger; Mayana Zatz; Katja Zschiedrich; Jörg Klepper; Elizabeth Spiteri; Jose M Prieto; Inmaculada Navas; Michael Preuss; Carmen Dering; Milena Janković; Martin Paucar; Per Svenningsson; Kioomars Saliminejad; Hamid R K Khorshid; Ivana Novaković; Adriano Aguzzi; Andreas Boss; Isabelle Le Ber; Gilles Defer; Didier Hannequin; Vladimir S Kostić; Dominique Campion; Daniel H Geschwind; Giovanni Coppola; Christer Betsholtz; Christine Klein; Joao R M Oliveira
Journal:  Nat Genet       Date:  2013-08-04       Impact factor: 38.330

9.  Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Authors:  Andrea Legati; Donatella Giovannini; Gaël Nicolas; Uriel López-Sánchez; Beatriz Quintáns; João R M Oliveira; Renee L Sears; Eliana Marisa Ramos; Elizabeth Spiteri; María-Jesús Sobrido; Ángel Carracedo; Cristina Castro-Fernández; Stéphanie Cubizolle; Brent L Fogel; Cyril Goizet; Joanna C Jen; Suppachok Kirdlarp; Anthony E Lang; Zosia Miedzybrodzka; Witoon Mitarnun; Martin Paucar; Henry Paulson; Jérémie Pariente; Anne-Claire Richard; Naomi S Salins; Sheila A Simpson; Pasquale Striano; Per Svenningsson; François Tison; Vivek K Unni; Olivier Vanakker; Marja W Wessels; Suppachok Wetchaphanphesat; Michele Yang; Francois Boller; Dominique Campion; Didier Hannequin; Marc Sitbon; Daniel H Geschwind; Jean-Luc Battini; Giovanni Coppola
Journal:  Nat Genet       Date:  2015-05-04       Impact factor: 38.330
  9 in total
  1 in total

1.  Neuropsychiatric Manifestations of Fahr's Disease, Diagnostic and Therapeutic Challenge: A Case Report and a Literature Review.

Authors:  Manuel Glauco Carbone; Filippo Della Rocca
Journal:  Clin Neuropsychiatry       Date:  2022-04
  1 in total

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